{"orpha":79235,"name":"Crigler-Najjar syndrome type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2","Bilirubin-UGT deficiency type 2"],"definition":"A form of Crigler Najjar syndrome (CNS), a rare hereditary disorder of bilirubin metabolism, characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated jaundice with a risk of developing bilirubin encephalopathy later in life due to triggers such as stress or infection.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79235/","orphanet_url":"https://www.orpha.net/en/disease/detail/79235","names":{"fr":{"name":"Syndrome de Crigler-Najjar type 2","synonyms":["Déficit en bilirubine uridine-diphosphate glucuronosyltransférase type 2","Déficit en bilirubine-UGT type 2"],"definition":"Forme du syndrome de Crigler Najjar (SCN), trouble héréditaire du métabolisme de la bilirubine, caractérisé par une hyperbilirubinémie non conjuguée due à une activité réduite et inductible de l'UDP-glucuronosyltransférase 1A1 hépatique. Sur le plan clinique, la maladie se manifeste par un ictère néonatal isolé, avec un risque de développer une encéphalopathie bilirubinique plus tard dans la vie en raison de facteurs déclenchants, tels que le stress ou une infection."},"de":{"name":"Crigler-Najjar-Syndrom Typ 2","synonyms":["Arias-Syndrom","Bilirubin UDP-Glucuronosyltransferase-Mangel Typ 2","Bilirubin-UGT-Defizienz Typ 2","Bilirubin-UGT-Mangel Typ 2","Hyperbilirubinämie, hereditäre unkonjugierte, Typ 2"],"definition":"Ein Subtyp des Crigler-Najjar-Syndroms (CNS), einer seltenen erblichen Störung des Bilirubinstoffwechsels, die durch eine unkonjugierte Hyperbilirubinämie aufgrund einer reduzierten und induzierbaren Aktivität der hepatischen UDP-Glucuronosyltransferase 1A1 gekennzeichnet ist. Klinisch äußert sich die Störung durch eine isolierte Neugeborenengelbsucht mit dem Risiko, im späteren Leben durch Auslöser wie Stress oder Infektionen eine Bilirubin-Enzephalopathie zu entwickeln."},"es":{"name":"Síndrome de Crigler-Najjar tipo 2","synonyms":["Deficiencia de bilirrubina uridinadifosfato glucuronosiltransferasa tipo 2","Deficiencia de bilirrubina-UGT tipo 2"],"definition":"Es una forma del síndrome de Crigler Najjar (SCN), un trastorno hereditario poco frecuente del metabolismo de la bilirrubina caracterizado por hiperbilirrubinemia no conjugada debido a una actividad reducida e inducible de la UDP-glucuronosiltransferasa 1A1 hepática. El trastorno se manifiesta clínicamente con ictericia neonatal aislada con riesgo de desarrollar encefalopatía por bilirrubina posteriormente debido a factores desencadenantes como el estrés o la infección."},"it":{"name":"Sindrome di Crigler-Najjar tipo 2","synonyms":["Deficit di UGT, tipo 2","Deficit di bilirubina uridina-difosfato glucuronosiltransferasi tipo 2","Deficit di bilirubina uridina-difosfato glucuronosiltransferasi, tipo 2","Deficit di bilirubina-UGT tipo 2"],"definition":"Si tratta di una forma della sindrome di Crigler Najjar (CNS), una malattia ereditaria rara del metabolismo della bilirubina, caratterizzata da iperbilirubinemia non coniugata causata da una riduzione dell'attività della UDP-glucuronosiltransferasi 1A1 epatica, che può essere indotta. Dal punto di vista clinico, la malattia si manifesta con ittero neonatale isolato, con probabilità di sviluppare nel corso della vita un'encefalopatia da bilirubina scatenata dallo stress o dalle infezioni."},"nl":{"name":"Syndroom van Crigler-Najjar type 2","synonyms":["Bilirubine-UGT-deficiëntie type 2","Deficiëntie van bilirubine-uridinedifosfaat-glucuronosyltransferase type 2"],"definition":"Een vorm van syndroom van Crigler-Najjar (CNS), een zeldzame erfelijke stoornis van bilirubinemetabolisme, gekenmerkt door niet-geconjugeerde hyperbilirubinemie als gevolg van verminderde en induceerbare activiteit van hepatisch UDP-glucuronosyltransferase 1A1. De aandoening manifesteert zich klinisch met neonatale, geïsoleerde geelzucht, met risico op ontwikkeling van bilirubine-encefalopathie op latere leeftijd door uitlokkende factoren zoals stress of infectie."},"pt":{"name":"Síndrome Crigler-Najjar tipo 2","synonyms":["Deficiência de bilirrubina-UGT tipo 2"],"definition":"Forma da síndrome Crigler Najjar (SCN), uma doença hereditária rara do metabolismo da bilirrubina, caracterizada por hiperbilirrubinemia não conjugada devido à atividade reduzida e induzível da UDP-glicuronosiltransferase 1A1 hepática. As manifestações clínicas são de icterícia neonatal isolada com risco de desenvolver encefalopatia bilirrubínica mais tarde na vida devido a fatores desencadeantes como stress ou infeção."},"pl":{"name":"Zespół Criglera i Najjara typu 2","synonyms":["Dziedziczna niesprzężona hiperbilirubinemia typu 2","Niedobó UGT typu 2","Niedobór bilirubiny-UGT typu 2","Niedobór urydynodifosforan-glukuronosylotransferazy bilirubiny typu 2","Zespół Ariasa"]},"cs":{"name":"Criglerův-Najjarův syndrom II. typu","synonyms":["Deficit bilirubin-uridin-difosfát-glukuronosyl-transferázy II. typu","Deficit bilirubin-UGT, typ 2","Hereditární nekonjugovaná hyperbilirubinémie, typ 2","Deficit UGT, typ 2","Ariasův syndrom","Crigler-Najjarův syndrom II. typu"]},"uk":{"name":"Синдром Криглера-Найяра, тип 2","synonyms":["Дефіцит уридиндифосфатглюкуронозилтрансферази білірубіну, тип 2","Дефіцит білірубіну-УГТ тип 2"],"definition":"A form of Crigler Najjar syndrome (CNS), a rare hereditary disorder of bilirubin metabolism, characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated jaundice with a risk of developing bilirubin encephalopathy later in life due to triggers such as stress or infection."},"zh":{"name":"Crigler-Najjar综合征2型","synonyms":["胆红素尿苷二磷酸葡萄糖醛酸转移酶缺乏症2型"]},"tr":{"name":"Crigler-Najjar sendromu tip 2","synonyms":["Arias sendromu","UGT eksikliği tip 2","Bilirubin-UGT eksikliği tip 2","Kalıtsal konjuge olmayan hiperbilirubinemi tip 2","Bilirubin üridindifosfat glukuronosiltransferaz eksikliği tip 2"]}},"xrefs":[{"source":"OMIM","code":"606785","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E80.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C58.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"846453488"},{"source":"MONDO","code":"0011725","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536213","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931132","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8683","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10011387","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":205,"name":"Crigler-Najjar syndrome","classifications":[150,156,183,233]}],"children":[],"genes":[{"symbol":"UGT1A1","name":"UDP glucuronosyltransferase family 1 member A1","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16456422[PMID]_17098698[PMID]","hgnc":"12530","ensembl":"ENSG00000241635","omim":"191740","loci":["2q37.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003265","label":"Neonatal hyperbilirubinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008282","label":"Unconjugated hyperbilirubinemia","frequency":"Very frequent (99-80%)","criteria":null}]}}